Canonical Allele Identifier: CA2670427131

Gene: PHOX2B

Linked Data

• gnomAD v4: 4-41745920-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745924del , CM000666.2:g.41745924del	GRCh38
NC_000004.11:g.41747941del , CM000666.1:g.41747941del	GRCh37
NC_000004.10:g.41442698del	NCBI36
NG_008243.1:g.8050del , LRG_513:g.8050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.831del MANE Select	ENSP00000226382.2:p.Gly278AlafsTer?
ENST00000226382.3:c.831del	ENSP00000226382.2:p.Gly278AlafsTer?
NM_003924.3:c.831del , LRG_513t1:c.831del	NP_003915.2:p.Gly278AlafsTer?
NM_003924.4:c.831del MANE Select	NP_003915.2:p.Gly278AlafsTer?